ClinVar Miner

Variants in gene MUTYH

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
277 268 1557 1091 76 34 2861

Condition and significance breakdown #

Total conditions: 39
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial adenomatous polyposis 2 217 193 1149 810 27 17 2244
Hereditary cancer-predisposing syndrome 145 109 1020 663 21 0 1845
not provided 58 55 305 108 48 0 516
not specified 1 0 145 161 31 21 325
Familial adenomatous polyposis 2; Gastric cancer 22 11 64 7 1 0 104
MUTYH-related disorder 11 3 24 30 0 0 68
Carcinoma of colon 19 3 15 8 4 0 47
Gastric cancer 21 2 0 2 0 0 25
Familial adenomatous polyposis 2; Pilomatrixoma; Neoplasm of stomach 4 0 8 0 0 0 12
Familial colorectal cancer type X 1 0 6 2 1 0 10
Breast carcinoma 6 1 0 0 1 0 8
Familial cancer of breast 0 1 3 1 0 0 5
Familial colorectal cancer 4 1 0 0 0 0 5
Colon cancer 1 1 1 0 0 0 3
Diffuse midline glioma, H3 K27-altered 2 0 1 0 0 0 3
Familial multiple polyposis syndrome 0 0 1 0 2 0 3
Hereditary cancer 0 0 0 3 0 0 3
Inherited polyposis and early onset colorectal cancer - germline testing 2 0 1 0 0 0 3
Familial adenomatous polyposis 2; Neoplasm of stomach 1 1 0 0 0 0 2
Malignant tumor of breast 0 0 1 0 1 0 2
Pilomatrixoma 0 2 0 0 0 0 2
B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 0 0 0 1
Colonic neoplasm 0 1 0 0 0 0 1
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 1 0 0 0 0 0 1
Colorectal cancer 1 0 0 0 0 0 1
Colorectal polyposis 1 0 0 0 0 0 1
Endometrial cancer 1 0 0 0 0 0 1
Endometrial carcinoma 1 0 0 0 0 0 1
Familial adenomatous polyposis 1 0 0 1 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 1
Hereditary breast ovarian cancer syndrome 0 1 0 0 0 0 1
Hereditary spastic paraplegia 7 0 1 0 0 0 0 1
Lynch syndrome 1 0 0 1 0 0 0 1
MUTYH-related Breast Cancer 0 1 0 0 0 0 1
Ovarian cancer 0 0 0 0 1 0 1
Ovarian carcinoma 1 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Small intestine carcinoid 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 112
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 192 91 1027 779 21 0 2110
Ambry Genetics 134 81 826 488 13 0 1542
Color Diagnostics, LLC DBA Color Health 65 37 456 320 15 0 893
All of Us Research Program, National Institutes of Health 54 30 288 127 7 0 506
GeneDx 48 35 213 116 54 0 466
Baylor Genetics 46 51 178 0 0 0 274
Quest Diagnostics Nichols Institute San Juan Capistrano 29 11 141 32 6 0 219
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 15 105 59 6 0 214
Department of Pathology and Laboratory Medicine, Sinai Health System 33 9 78 29 6 0 150
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 12 8 51 62 6 0 139
Sema4, Sema4 14 9 70 39 6 0 138
Counsyl 13 19 67 29 1 0 129
PreventionGenetics, part of Exact Sciences 11 5 32 39 12 0 99
Mendelics 12 4 40 18 6 0 80
Fulgent Genetics, Fulgent Genetics 20 7 45 3 1 0 76
CeGaT Center for Human Genetics Tuebingen 16 6 9 22 5 0 58
Illumina Laboratory Services, Illumina 6 4 35 5 4 0 54
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 16 6 20 0 5 0 47
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 2 4 17 15 8 0 46
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 1 8 12 15 0 43
Revvity Omics, Revvity 18 10 11 0 0 0 39
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 1 20 0 0 0 26
Clinical Genetics, Academic Medical Center 8 0 3 8 6 0 25
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 4 2 18 1 0 0 25
Breakthrough Genomics, Breakthrough Genomics 0 0 3 11 11 0 25
Myriad Genetics, Inc. 9 13 0 1 0 0 23
ITMI 0 0 0 0 0 21 21
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 7 0 4 7 3 0 21
Genetic Services Laboratory, University of Chicago 5 0 8 5 2 0 20
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 2 2 9 1 5 0 19
Mayo Clinic Laboratories, Mayo Clinic 3 1 9 1 5 0 19
Laboratory for Genotyping Development, RIKEN 19 0 0 0 0 0 19
KCCC/NGS Laboratory, Kuwait Cancer Control Center 5 1 1 6 6 0 19
True Health Diagnostics 2 0 5 8 2 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 6 0 2 3 6 0 17
Eurofins Ntd Llc (ga) 4 0 5 0 7 0 16
GeneKor MSA 3 3 9 0 0 0 15
MGZ Medical Genetics Center 5 1 8 0 0 0 14
Pathway Genomics 8 1 3 1 1 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 6 0 0 3 4 0 13
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 2 0 8 3 0 0 13
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 7 0 0 2 3 0 12
GeneReviews 2 0 0 0 0 9 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 11 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 4 0 0 2 4 0 10
Clinical Genetics Laboratory, Skane University Hospital Lund 7 1 2 0 0 0 10
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 6 4 0 0 0 0 10
OMIM 9 0 0 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 1 0 0 0 7
Clinical Genetics and Genomics, Karolinska University Hospital 5 2 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 1 0 0 0 0 7
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 1 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 1 2 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 1 2 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 2 1 1 0 5
University of Washington Department of Laboratory Medicine, University of Washington 3 1 0 1 0 0 5
AiLife Diagnostics, AiLife Diagnostics 3 1 1 0 0 0 5
Human Genetics Bochum, Ruhr University Bochum 3 1 1 0 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 1 0 0 0 0 4
Vantari Genetics 1 0 1 0 2 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 2 0 0 1 0 4
Genomics England Pilot Project, Genomics England 4 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Center of Medical Genetics and Primary Health Care 0 0 3 0 0 0 3
Molecular Oncology Laboratory, Hospital Clínico San Carlos 1 1 1 0 0 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 0 1 0 0 0 3
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 1 0 0 1 1 0 3
Division of Medical Genetics, University of Washington 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 1 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Genetics Department, Catlab 2 0 0 0 0 0 2
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Endocrine oncology group, Uppsala University 0 1 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 1 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 1
Arcensus 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 1 0 0 0 0 0 1
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 1 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 1

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